ORPHA:93438
Mesomelic and rhizo-mesomelic dysplasia
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mesomelic and rhizo-mesomelic dysplasia | |
| fr | Dysplasie mésomélique et rhizo-mésomélique | |
| de | Dysplasie, mesomele und rhizo-mesomele | |
| es | Displasia mesomélica y rizo-mesomélica | |
| it | Displasia mesomelica e rizo-mesomelica | |
| nl | Mesomele en rhizo-mesomele dysplasie | |
| pt | Displasia mesomélica e rizo-mesomélica | |
| pl | Dysplazja mezomeliczna i rizomezomeliczna | |
| cs | Mezomelické a rhizomezomelické dysplázie | |
| uk | Мезомелічна та ризомезомелічна дисплазія | |
| zh | 肢中和肢中根骨发育不良 | |
| tr | Mezomelik ve rizo-mezomelik displazi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.A | E | specific | validated |
| UMLS | C5681611 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (23):
- ORPHA:56304Atelosteogenesis type II
- ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- ORPHA:1453Cleidorhizomelic syndrome
- ORPHA:424099Colobomatous microphthalmia-rhizomelic dysplasia syndrome
- ORPHA:611223EN1-related dorsoventral syndrome
- ORPHA:2021Fibrochondrogenesis
- ORPHA:2632Langer mesomelic dysplasia
- ORPHA:240Léri-Weill dyschondrosteosis
- ORPHA:2634Mesomelic dwarfism, Reinhardt-Pfeiffer type
- ORPHA:2631Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- ORPHA:1836Mesomelic dysplasia, Kantaputra type
- ORPHA:2633Mesomelic dysplasia, Nievergelt type
- ORPHA:85170Mesomelic dysplasia, Savarirayan type
- ORPHA:632603Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
- ORPHA:2733Omodysplasia
- ORPHA:580940QRICH1-related intellectual disability-chondrodysplasia syndrome
- ORPHA:2831Rhizomelic dysplasia, Patterson-Lowry type
- ORPHA:3098Rhizomelic syndrome, Urbach type
- ORPHA:97360Robinow syndrome
- ORPHA:314795SHOX-related short stature
- ORPHA:397623Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- ORPHA:2497Upper limb mesomelic dysplasia, type Fryns
- ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Codes that Orphanet moved or referred to this one:
- ORPHA:1765OBSOLETE: Dyschondrosteosis-nephritis syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93438
- This record as JSON: /data/d/93438.json